Term Name: nemaline myopathy 2
Synonyms: congenital myopathy 2, NEM2, nemaline myopathy 2, autosomal recessive
Definition: A nemaline myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23.
Ontology: Human Disease [DOID:0110928]   ( DOID:0110928 )

Relationships
is a type of: autosomal recessive disease nemaline myopathy